Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency (LSMFLAD)

Alias:
Lsmflad
Myopathy, Lipid Storage, Due to Flavin Adenine Dinucleotide Synthetase Deficiency
Lipid Storage Myopathy Due to Flad1 Deficiency
Myopathy with Abnormal Lipid Metabolism
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
脂质储存肌病(Flavin Adenine Dinucleotide Synthetase Deficiency), 也称为 lsmflad。与脂质储存肌病(Flavin Adenine Dinucleotide Synthetase Deficiency)相关的基因是 FLAD1(Flavin Adenine Dinucleotide Synthetase 1)。相关组织包括骨骼肌,相关表型包括脊柱侧弯和血清肌酸激酶浓度升高。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
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4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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